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Title	Author(s)	Issue Date	Views
Homozygous Missense Mutation in ABR Causes Cerebellar Hypoplasia with Early Lethality - A New Condition Identified by Exome Sequencing? Proceeding/Conference:Hong Kong Journal of Paediatrics (New series)	Ying, D Shek, NWM Chu, WY Yeung, KS Leung, KC Tang, MHY Kan, SYA Chan, YK Chung, BHY	2014	94
Homozygous missense mutation in ABR causes cerebellar hypoplasia with early lethality: a new condition identified by exome sequencing? Proceeding/Conference:American Journal of Medical Genetics Part A	Ying, D Shek, NWM Chu, YWY Yeung, KS Leung, KC Tang, MHY Kan, ASY Chan, YK Chung, BHY	2015	77
How common is mosaicism? The 9 years-experience in a university affiliated genetic clinic in Hong Kong Proceeding/Conference:Joint Annual Scientific Meeting 2019 of The Hong Kong Paediatric Society, Hong Kong College of Paediatricians, Hong Kong Paediatric Nurses Association, & Hong Kong College of Paediatric Nursing	Lui, ACY Chan, MCY Fung, JLF Yu, MHC Mak, CCY Tsang, MHY Lee, M Yeung, KS Chung, BHY	2019	10
Identification of a CFTR founder mutations, c.3068T>G:p.I1023R, which causes protein trafficking defects in Chinese patients with cystic fibrosis Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	Leung, KC Ying, D Mak, CCY Chen, XY Xu, W Yeung, KS Chu, WY Mok, TKG Chau, SKC McLuskey, J Ong, WPT Leong, HY Chan, YK Yang, W Chen, JH Li, AM Lau, YL Lee, SL Chung, BHY	2016	66
Identification of a novel homozygous missense mutation in ABR causing cerebellar hypoplasia with early lethality Proceeding/Conference:Asian Society for Pediatric Research & Faculty of Medicine Ramathibodi Hospital Joint Meeting, ASPR 2016	Leung, GKC Ying, D Shek, NWM Chu, WY Yeung, KS Tang, MHY Kan, SYA Chan, YK Ip, JKJ Yang, W Lau, YL Chung, BHY	2016	46
Identification of epigenetic alterations in imprinting growth disorders Proceeding/Conference:HKU Department of Paediatrics & Adolescent Medicine Golden Jubilee Scientific Meeting	Wong, WL Chu, WY Yeung, KS Mak, CCY Wong, KY Li, RHW Tang, MHY Chung, BHY	2014	61
Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism Journal:Molecular Autism	Yeung, KS Tso, WYW Ip, JKJ MAK, CCY Leung, KC TSANG, HY Ying, D Pei, LCS Lee, SL Yang, W Chung, BHY	2017	57
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES) Journal:BMC Medical Genomics	Leung, KC Mak, CCY Fung, LF Wong, WHS Tsang, HY Yu, HC Pei, LCS Yeung, KS Mok, TKG Lee, CP Hui, PW Tang, MHY Chan, YK Liu, APY Yang, W Sham, PC Kan, SYA Chung, BHY	2018	68
Muddling Through Muscle Genes – The Quest For Diagnosis In 50 Patients With Neuromuscular Disorders Using Whole Exome Sequencing. Proceeding/Conference:Asian Oceanian Congress of Child Neurology	Tsang, MHY Chiu, ATG Kwong, BMH Rui, LIANG Yu, MHC Yeung, KS Ho, WHL Mak, CCY Leung, GKC Muntoni, F Chung, BHY Chan, HSS	2019	12
Mutation in PIK3CA leading to developmental mosaic disorders Proceeding/Conference:Annual Scientific Meeting of the Hong Kong College of Paediatricians, HKCPaed 2015	Yeung, KS Leung, GKC Wong, WL Li, CH Choi, KY Kuong, EEYL Chow, W To, MKT Ip, JKJ Chow, CP Chan, GCF Chung, BHY	2015	139
Next generation sequencing in prenatal diagnosis Proceeding/Conference:American Society of Human Genetics Annual Meeting, ASHG2017	Leung, GKC Mak, CCY Pei, SLC Tsang, MHY Yu, MHC Yeung, KS Mok, GTK Hui, APW Tang, MHY Chan, KYK Kan, SYA Chung, BHY	2017	50
On the application of variable digital filters (VDF) to the realization of software radio receivers Proceeding/Conference:Proceedings - IEEE International Symposium on Circuits and Systems	Chan, SC Yeung, KS	2003	72
On the design and implementation of FIR and IIR digital filters with variable frequency characteristics Journal:IEEE Transactions on Circuits and Systems II: Analog and Digital Signal Processing	Pun, CKS Chan, SC Yeung, KS Ho, KL	2002	80
On the design and implementation of FIR and IIR digital filters with variable frequency characteristics Proceeding/Conference:IEEE International Symposium on Circuits and Systems Proceedings	Chan, SC Carson Pun, KS Yeung, KS Ho, KL	2002	114
On the Design and Multiplier-less Realization of Digital IF for software radio Receivers Proceeding/Conference:Proc. European Signal Processing Conference (EUSIPCO2002)	Yeung, KS Chan, SC	2002	50
On the design and multiplier-less realization of digital IF for software radio receivers with prescribed output accuracy	Chan, SC Yeung, KS	2002	55
On the design and multiplierless realization of perfect reconstruction triplet-based FIR filter banks and wavelet bases Journal:IEEE Transactions on Circuits and Systems I: Regular Papers	Chan, SC Yeung, KS	2004	67
On the minimax design of passband linear-phase variable digital filters using semidefinite programming Journal:IEEE Signal Processing Letters	Tsui, KM Yeung, KS Chan, SC Tse, KW	2004	84
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay Journal:Journal of Medical Genetics	Yeung, KS Ho, SP Lee, SL Kan, SYA Chan, YK Tang, MHY MAK, CCY Leung, KC So, PL Pfundt, R Marshall, CR Scherer, SW Choufani, S Weksberg, R Chung, BHY	2018	53
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese Journal:npj Genomic Medicine	YU, MHC TSANG, MHY Lai, S Ho, MSP Tse, DML Willis, B Kwong, AKY Chou, YY Lin, SP Quinzii, CM Hwu, WL Chien, YH Kuo, PL Chan, VCM Tsoi, C Chong, SC Rodenburg, RJT Smetinik, J Mak, CCY Yeung, KS Fung, LF Lam, W Hui, J Lee, NC Fung, CW Chung, BHY	2019	12

Showing results 24 to 43 of 54 < previous next >